| 1 | AI3C, RELT |
| Mutations in RELT cause autosomal recessive amelogenesis imperfecta. | |
| Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC. | |
| Clin Genet 95(3):375-383. doi: 10.1111/cge.13487. Epub 2018 Dec 21. 2019 | |